Canonical Allele Identifier: CA2654972572

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45990525-G-GGAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990526_45990527insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG , CM000683.2:g.45990526_45990527insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	GRCh38
NC_000021.8:g.47410440_47410441insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG , CM000683.1:g.47410440_47410441insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	GRCh37
NC_000021.7:g.46234868_46234869insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	NCBI36
NG_008674.1:g.13778_13779insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG , LRG_475:g.13778_13779insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG MANE Select	ENSP00000355180.3:n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGC...
ENST00000361866.7:c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	ENSP00000355180.3:n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGC...
ENST00000612273.1:c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	ENSP00000483630.1:n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGC...
NM_001848.2:c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG , LRG_475t1:c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG	NP_001839.2:n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATG...
NM_001848.3:c.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATGGGGAGGGATGGAG MANE Select	NP_001839.2:n.1002+104_1002+105insAGGGATGGGGAGGGATGGGGCGAGATG...